ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.5361C>T (p.Ser1787=)

gnomAD frequency: 0.00267  dbSNP: rs147656220
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000888645 SCV001032293 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888645 SCV003916236 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing ABCA12: BP4, BP7, BS2

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